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Article

Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability.

Taiwanese journal of obstetrics & gynecology - 1 Nov 2021

Jin Chunyan, Qian Hua, Xu Tianhui, Chen Jiao, Li Xuefang, Gu Zhiping

Abstract excerpt

OBJECTIVE: To provide prenatal diagnosis for a pregnant woman with genetic history of intellectual disability. CASE REPORT: A Chinese pedigree with intellectual disability was collected in this study. Cytogenetic analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) followed by Sanger validation were conducted to identify the genetic pathogenesis. A novel heterozygous deletion...

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PMID: 34794744
DOI: 10.1016/j.tjog.2021.09.023

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